Xanthinuria Type 1 with a Novel Mutation in Xanthine Dehydrogenase and a Normal Endothelial Function

Intern Med. 2022;61(9):1383-1386. doi: 10.2169/internalmedicine.7897-21. Epub 2022 May 1.

Abstract

Whether or not extremely low levels of serum uric acid (SUA) in xanthinuria are associated with impairment of the endothelial function and exercise-induced acute kidney injury (EIAKI) is unclear. A 59-year-old woman without EIAKI or urolithiasis had undetectable levels of UA in serum and urine and elevated levels of hypoxanthine and xanthine in urine. A genetic analysis revealed homozygous mutations in the XDH gene [c.1585 C>T (p. Gln529*)]. Flow-mediated dilation was within the normal range. This is the first report of a case with extremely low levels of SUA, xanthinuria with novel mutations of xanthine dehydrogenase (XDH) and a normal endothelial function.

Keywords: XDH gene; endothelial function; xanthinuria type1.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Humans
  • Metabolism, Inborn Errors* / genetics
  • Middle Aged
  • Mutation / genetics
  • Uric Acid
  • Xanthine Dehydrogenase* / deficiency
  • Xanthine Dehydrogenase* / genetics

Substances

  • Uric Acid
  • Xanthine Dehydrogenase

Supplementary concepts

  • Xanthinuria, Type I